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J Cutan Pathol ; 47(9): 794-799, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32285462

RESUMEN

BACKGROUND: Determination of BRAF status is mandatory for targeted therapy but it is not currently available in most developing countries. AIM: We aimed to analyze BRAF mutations in a series of cutaneous melanoma of Tunisian patients and to compare BRAF V600E mutation detection by immunohistochemistry to DNA sequencing. PATIENTS AND METHODS: Archival formalin fixed paraffin embedded tissues from 28 patients with primary cutaneous melanoma were evaluated for the BRAF mutations by Sanger sequencing and immunohistochemistry. RESULTS: BRAF mutations were detected in 19/28 (68%) of analyzed tumors. The sensitivity and specificity of immunohistochemistry compared to DNA sequencing for identification of the BRAF V600E mutation were 100%. We found five novel mutations, one of them had deleterious effect. CONCLUSION: The present study shows an intermediate frequency of mutations of the BRAF gene in cutaneous melanoma of Tunisian patients, and supports the use of immunohistochemistry as a screening test for the assessment of the BRAF V600E status in the management of melanoma in clinical practice.


Asunto(s)
Melanoma/metabolismo , Proteínas Proto-Oncogénicas B-raf/metabolismo , Neoplasias Cutáneas/patología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Países en Desarrollo/estadística & datos numéricos , Femenino , Humanos , Inmunohistoquímica/métodos , Masculino , Melanoma/diagnóstico , Persona de Mediana Edad , Terapia Molecular Dirigida/métodos , Mutación , Sensibilidad y Especificidad , Análisis de Secuencia de ADN/métodos , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/metabolismo , Túnez/epidemiología , Melanoma Cutáneo Maligno
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